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American Journal of Medical Genetics. Part A
|
December 31, 2021
Congenital heart defects in molecularly confirmed KBG syndrome patients
Maria Cristina Digilio, Giulio Calcagni, Maria Gnazzo, et al.
European Journal of Medical Genetics
|
November 21, 2022
Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease
Carolina Putotto, Marta Unolt, Caterina Lambiase, et al.
Heart Failure Clinics
|
November 15, 2021
Clinical Manifestations of 22q11.2 Deletion Syndrome
Annapaola Cirillo, Michele Lioncino, Annachiara Maratea, et al.
American Journal of Medical Genetics. Part A
|
March 4, 2020
KBG syndrome: Common and uncommon clinical features based on 31 new patients
Maria Gnazzo, Francesca R Lepri, Maria Lisa Dentici, et al.
Diagnostics (Basel, Switzerland)
|
March 27, 2024
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome
Giulio Calcagni, Federica Ferrigno, Alessio Franceschini, et al.
Human Mutation
|
July 15, 2018
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect
Rosangela Ferese, Monica Bonetti, Federica Consoli, et al.
Schizophrenia Bulletin Open
|
August 15, 2024
Social Cognition Impairments in 22q11.2DS Individuals With and Without Psychosis: A Comparison Study With a Large Population of Patients With Schizophrenia
Tommaso Accinni, Antonino Buzzanca, Marianna Frascarelli, et al.
Human Mutation
|
September 9, 2020
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene
Francesca Piceci-Sparascio, Adrian Palencia-Campos, Patricia Soto-Bielicka, et al.
Genes
|
September 7, 2019
Prevalence, Type, and Molecular Spectrum of <i>NF1</i> Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease
Valentina Pinna, Paola Daniele, Giulio Calcagni, et al.
Data in Brief
|
March 16, 2018
Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results
Giulio Calcagni, Giuseppe Limongelli, Angelo D'Ambrosio, et al.
Page
of 9
Search research articles
Search
Showing results (71-80 of 84) with videos related to
Sort By:
Page
of 9
American Journal of Medical Genetics. Part A
|
December 31, 2021
Congenital heart defects in molecularly confirmed KBG syndrome patients
Maria Cristina Digilio, Giulio Calcagni, Maria Gnazzo, et al.
European Journal of Medical Genetics
|
November 21, 2022
Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease
Carolina Putotto, Marta Unolt, Caterina Lambiase, et al.
Heart Failure Clinics
|
November 15, 2021
Clinical Manifestations of 22q11.2 Deletion Syndrome
Annapaola Cirillo, Michele Lioncino, Annachiara Maratea, et al.
American Journal of Medical Genetics. Part A
|
March 4, 2020
KBG syndrome: Common and uncommon clinical features based on 31 new patients
Maria Gnazzo, Francesca R Lepri, Maria Lisa Dentici, et al.
Diagnostics (Basel, Switzerland)
|
March 27, 2024
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome
Giulio Calcagni, Federica Ferrigno, Alessio Franceschini, et al.
Human Mutation
|
July 15, 2018
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect
Rosangela Ferese, Monica Bonetti, Federica Consoli, et al.
Schizophrenia Bulletin Open
|
August 15, 2024
Social Cognition Impairments in 22q11.2DS Individuals With and Without Psychosis: A Comparison Study With a Large Population of Patients With Schizophrenia
Tommaso Accinni, Antonino Buzzanca, Marianna Frascarelli, et al.
Human Mutation
|
September 9, 2020
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene
Francesca Piceci-Sparascio, Adrian Palencia-Campos, Patricia Soto-Bielicka, et al.
Genes
|
September 7, 2019
Prevalence, Type, and Molecular Spectrum of <i>NF1</i> Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease
Valentina Pinna, Paola Daniele, Giulio Calcagni, et al.
Data in Brief
|
March 16, 2018
Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results
Giulio Calcagni, Giuseppe Limongelli, Angelo D'Ambrosio, et al.
Page
of 9